Monogenic forms of diabetes are rare forms of diabetes, caused by gene defects, that are neither type 1 nor type 2.
Monogenic forms of diabetes, previously termed maturity-onset diabetes of youth (MODY) and neonatal diabetes, are not considered type 1 or type 2 (although they are sometimes mistaken for them) and are uncommon. Monogenic forms are caused by inherited genetic defects, so affected children typically have one or more affected family members. Unlike types 1 and 2, there is no autoimmune destruction of pancreas cells or insulin resistance. Onset is usually before age 25 years, and neonatal diabetes appears within the first 6 months of life.
Symptoms and Signs of Monogenic Forms of Diabetes
Children and infants with monogenic diabetes, including MODY and neonatal diabetes, typically have mildly to moderately elevated blood sugar levels, usually without more severe illnesses such as diabetic ketoacidosis. Children generally do not have obesity, lack pancreatic autoantibodies, and may not require insulin initially due to preserved . Children generally do not have obesity, lack pancreatic autoantibodies, and may not require insulin initially due to preservedinsulin production.
Neonatal diabetes can be associated with growth and developmental issues. Unlike type 1 diabetes, symptoms are often subtle and vary significantly depending on the specific genetic mutation.
Diagnosis of Monogenic Forms of Diabetes
Monogenic diabetes is important to recognize because treatment differs from type 1 and type 2 diabetes. The diagnosis should be considered in children with a strong family history of diabetes but who lack typical features of type 2 diabetes; that is, they have only mildly elevated blood sugar before or after eating, obesity, and do not have physical signs of insulin resistance commonly seen in type 2 diabetes (such as acanthosis nigricans).
Genetic testing is available to confirm monogenic diabetes. This testing is important because some types of monogenic diabetes can progress with age. Some children with monogenic diabetes will have a family history suggesting an autosomal dominant inheritance pattern (ie, one parent and multiple relatives on that parent's side affected), and some will have kidney abnormalities.
Treatment
Management of monogenic diabetes is individualized and depends on specific type.
Some subtypes are sensitive to some types of oral antihyperglycemic medications, but some people ultimately require insulin. One subtype does not require treatment because children are not at risk of long-term complications.
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